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Titolo:
First case of missense mutation (LDH-H : R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient
Autore:
Hidaka, K; Ueda, N; Hirata, I; Watanabe, Y; Minatogawa, Y; Iuchi, I;
Indirizzi:
Kawasaki Med Sch, Dept Biochem, Kurashiki, Okayama 7010192, Japan KawasakiMed Sch Kurashiki Okayama Japan 7010192 , Okayama 7010192, Japan KawasakiOkayama,lied Hlth Profess, Dept Med Illustrat & Design, Kurashiki,Kawasaki Coll Allied Hlth Profess Kurashiki Okayama Japan gn, Kurashiki, Yamaguchi Prefectural Cent Hosp, Dept Clin Pathol, Yamaguchi, Japan Yamaguchi Prefectural Cent Hosp Yamaguchi Japan athol, Yamaguchi, Japan Yamaguchi Prefectural Cent Hosp, Dept Internal Med, Yamaguchi, Japan Yamaguchi Prefectural Cent Hosp Yamaguchi Japan l Med, Yamaguchi, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 1, volume: 44, anno: 1999,
pagine: 69 - 72
SICI:
1434-5161(1999)44:1<69:FCOMM(>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
MOLECULAR CHARACTERIZATION; DEFICIENCY; ORGANIZATION; VARIANT; MUSCLE; HEART;
Keywords:
lactate dehydrogenase; missense mutation RT-PCR;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Hidaka, K Kawasaki Med Sch, Dept Biochem, 577 Matsushima, Kurashiki, Okayama 7010192, Kawasaki Med Sch 577 Matsushima Kurashiki Okayama Japan 7010192
Citazione:
K. Hidaka et al., "First case of missense mutation (LDH-H : R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient", J HUM GENET, 44(1), 1999, pp. 69-72

Abstract

Complete deficiency of lactate dehydrogenase (LDH) subunit H was identified in a 41-year-old woman with paralysis of her left lower limb. The propositus had extremely low LDH activity and five of her family members had levels of LDH activity that ranged from lower than normal to normal level. A transversion mutation at codon 171 (CGC --> CCC), resulting in an Arg --> Pro substitution was identified in her DNA sequence. A new NruI restriction site was introduced into the polymerase chain reaction (PCR) product by PCR-primer introduced restriction analysis (PCR-PIRA) using a specific mismatchedprimer. Digestion with NruI revealed that the propositus and her mother were, respectively, homozygous and heterozygous for this mutation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 09:24:42